Now showing items 1-20 of 24

    • Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC carriers 

      Schmidt, Marjanka K.; Hogervorst, Frans; van Hien, Richard; Cornelissen, Sten; Broeks, Annegien; Adank, Muriel; Meijers, Hanne et al. (American Society of Clinical Oncology, 2016)
      CHEK2*1100delC is a well-established breast cancer risk variant, most prevalent in European populations. However, there are limited data on risk of breast cancer by age and tumor subtype, limiting its usefulness in breast ...
    • Annexin A1 expression in a pooled breast cancer series: association with tumor subtypes and prognosis 

      Sobral-Leite, Marcelo; Wesseling, Jelle; Smit, Vincent T H B M; Nevanlinna, Heli; van Miltenburg, Martine H; Sanders, Joyce; Hofland, Ingrid et al. (2015-07-02)
      Abstract Background Annexin A1 (ANXA1) is a protein related with the carcinogenesis process and metastasis formation in many tumors. However, little is known about the prognostic ...
    • Annexin A1 expression in breast cancer: tumor subtypes and prognosis 

      Sobral-Leite, Marcelo; Wesseling, Jelle; Smit, Vincent T. H. B. M.; Nevanlinna, Heli; van Miltenburg, Martine H.; Sanders, Joyce; Hofland, Ingrid et al. (BioMed Central, 2015-06-25)
      Background Annexin A1 (ANXA1) is a protein related with the carcinogenesis process and metastasis formation in many tumors. However, little is known about the prognostic value of ANXA1 in breast cancer. The purpose of ...
    • BRCA2 hypomorphic missense variants confer moderate risks of breast cancer 

      Shimelis, Hermela; Mesman, Romy LS; Von Nicolai, Catharina; Ehlen, Asa; Guidugli, Lucia; Martin, Charlotte; Calleja, Fabienne MGR et al.
      Breast cancer risks conferred by many germline missense variants in the $\textit{BRCA1}$ and $\textit{BRCA2}$ genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, ...
    • Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 

      Dunning, Alison M.; Michailidou, Kyriaki; Kuchenbaecker, Karoline B.; Thompson, Deborah; French, Juliet D.; Beesley, Jonathan; Healey, Catherine S. et al. (Nature Publishing Group, 2016)
      We analysed 3872 common genetic variants across the ESR1 locus (encoding estrogen receptor–alpha) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, ...
    • Combined effects of single nucleotide polymorphisms TP53R72P and MDM2SNP309, and p53 expression on survival of breast cancer patients 

      Schmidt, Marjanka K.; Tommiska, Johanna; Broeks, Annegien; van Leeuwen, Flora E.; Van't Veer, Laura J.; Pharoah, Paul D. P.; Easton, Douglas F. et al. (2009-12-18)
      Abstract Introduction Somatic inactivation of the TP53 gene in breast tumors is a marker for poor outcome, and breast cancer outcome might also be affected by germ-line variation in the TP53 gene or its regulators. We ...
    • Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium 

      Milne, Roger L.; Burwinkel, Barbara; Michailidou, Kyriaki; Arias-Perez, Jose-Ignacio; Zamora, M. Pilar; Menéndez-Rodríguez, Primitiva; Hardisson, David et al. (Oxford University Press, 2014-07-04)
      Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most studies have been underpowered to detect associations of a realistic magnitude ...
    • Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation 

      Ghoussaini, Maya; Edwards, Stacey L.; Michailidou, Kyriaki; Nord, Silje; Cowper-Sal•lari, Richard; Desai, Kinjal; Kar, Siddhartha et al. (NPG, 2014-09-23)
      GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine-mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the “iCOGS” genotyping ...
    • Evidence that the 5p12 variant rs10941679 confers susceptibility to estrogen receptor positive breast cancer through FGF10 and MRPS30 regulation 

      Ghoussaini, Maya; French, Juliet D.; Michailidou, Kyriaki; Nord, Silje; Beesley, Jonathan; Canisus, Sander; Hillman, Kristine M. et al. (Elsevier (Cell Press), 2016)
      Genome-wide association studies (GWAS) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine-mapping of this locus using data from 104,660 subjects from 50 ...
    • Fine scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1 

      Glubb, Dylan M.; Maranian, Mel J.; Michailidou, Kyriaki; Pooley, Karen A.; Meyer, Kerstin B.; Kar, Siddhartha; Carlebur, Saskia et al. (Cell/Elsevier, 18/12/2014)
      Genome Wide Association Studies (GWAS) revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analysed 909 ...
    • Fine scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. 

      Glubb, Dylan M.; Maranian, Mel J.; Michailidou, Kyriaki; Pooley, Karen A.; Meyer, Kerstin B.; Kar, Siddhartha; Carlebur, Saskia et al. (2015-12-18)
    • Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus 

      Horne, Hisani N.; Chung, Charles C.; Zhang, Han; Yu, Kai; Prokunina-Olsson, Ludmila; Michailidou, Kyriaki; Bolla, Manjeet K. et al. (Public Library of Science, 2016-08-24)
      The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, ...
    • Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer 

      Shi, Jiajun; Zhang, Yanfeng; Zheng, Wei; Michailidou, Kyriaki; Ghoussaini, Maya; Bolla, Manjeet K.; Wang, Qin et al. (Wiley, 2016)
      Previous genome-wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. ...
    • Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1 

      Glubb, Dylan M.; Maranian, Mel J.; Michailidou, Kyriaki; Pooley, Karen A.; Meyer, Kerstin B.; Kar, Siddhartha; Carlebur, Saskia et al. (Elsevier, 2014-12-18)
      Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed ...
    • Genetic variation in the immunosuppression pathway genes and breast cancer: a pooled analysis of 42,510 cases and 40,577 controls from the Breast 

      Lei, Jieping; Rudolph, Anja; Moysich, Kirsten B.; Behrens, Sabine; Goode, Ellen L.; Bolla, Manjeet K.; Dennis, Joe et al. (Springer, 2015-11-30)
      Immunosuppression plays a pivotal role in assisting tumors to evade immune destruction and promoting tumor development. We hypothesized that genetic variation in the immunosuppression pathway genes may be implicated in ...
    • Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 

      Michailidou, Kyriaki; Beesley, Jonathan; Lindstrom, Sara; Canisius, Sander; Dennis, Joe; Lush, Michael J.; Maranian, Mel J. et al. (NPG, 2015-03-09)
      Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ~14% of the familial risk of the disease. To identify new ...
    • High-throughput automated scoring of Ki67 in breast cancer tissue microarrays from the Breast Cancer Association Consortium 

      Abubakar, Mustapha; Howat, William J.; Daley, Frances; Zabaglo, Lila; McDuffus, Leigh-Anne; Blows, Fiona; Coulson, Penny et al. (Wiley, 2016-04-06)
      Automated methods are needed to facilitate high-throughput and reproducible scoring of Ki67 and other markers in breast cancer tissue microarrays (TMAs) in large-scale studies. To address this need, we developed an automated ...
    • Identification and characterisation of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk 

      Lin, Wei-Yu; Camp, Nicola J.; Ghoussaini, Maya; Beesley, Jonathan; Michailidou, Kyriaki; Hopper, John L.; Apicella, Carmel et al. (Oxford University Press, 2014-08-28)
      Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility we carried out dense genotyping of this region ...
    • Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus 

      Zeng, Chenjie; Guo, Xingyi; Long, Jirong; Kuchenbaecker, Karoline B.; Droit, Arnaud; Michailidou, Kyriaki; Ghoussaini, Maya et al. (BioMed Central, 2016)
      Background Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. Method We performed a ...
    • Identification of Novel Genetic Markers of Breast Cancer Survival 

      Guo, Qi; Schmidt, Marjanka K.; Kraft, Peter; Canisius, Sander; Chen, Constance; Khan, Sofia; Tyrer, Jonathan et al. (Oxford Journals, 2015-04-18)
      Background: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with ...